Department of Neurology, Mesulam Center for Cognitive Neurology and Alzheimer's Disease, Feinberg School of Medicine, Northwestern University, Chicago, IL, United States.
Prog Mol Biol Transl Sci. 2021;177:157-173. doi: 10.1016/bs.pmbts.2020.10.002. Epub 2020 Dec 3.
Alzheimer's disease (AD) is the leading cause of dementia and sixth cause of death in elderly adults. AD poses a huge economic burden on society and constitutes an unprecedented challenge for caregivers and families affected. Aging of the population is projected to drastically aggravate the situation in the near future. To date, no therapy is available to prevent or ameliorate the disease. Moreover, several clinical trials for promising therapeutic agents have failed. Lack of supporting biomarker data for pre-symptomatic enrollment and inaccurate stratification of patients based on genetic heterogeneity appear to be contributing factors to this lack of success. Recently, the treatment of cancer has seen enormous advances based on the personalized genetics and biomarkers of the individual patient, forming the foundation of precision medicine for cancer. Likewise, technological progress in AD biomarker research promises the availability of reliable assays for pathology staging on a routine basis relatively soon. Moreover, tremendous achievements in AD genetics and high-throughput genotyping technology allow identification of predisposing risk alleles accurately and on a large scale. Finally, availability of electronic health records (EHR) promises the opportunity to integrate biomarker, genomic and clinical data efficiently. Together, these advances will form the basis of precision medicine for AD.
阿尔茨海默病（AD）是痴呆症的主要病因，也是老年人的第六大死因。AD 给社会带来了巨大的经济负担，也给受影响的护理人员和家庭带来了前所未有的挑战。预计人口老龄化将在不久的将来使情况急剧恶化。迄今为止，尚无预防或改善该疾病的疗法。此外，几项针对有前途的治疗药物的临床试验都失败了。缺乏支持在症状出现前入组的生物标志物数据，以及基于遗传异质性对患者进行的不准确分层，似乎是导致这种治疗失败的原因。最近，基于个体患者的个性化遗传学和生物标志物，癌症治疗取得了巨大进展，为癌症的精准医学奠定了基础。同样，AD 生物标志物研究的技术进步有望在不久的将来能够常规获得可靠的病理分期检测方法。此外，AD 遗传学和高通量基因分型技术的巨大进展使得能够准确且大规模地识别易患病的风险等位基因。最后，电子健康记录（EHR）的出现提供了有效整合生物标志物、基因组和临床数据的机会。这些进展将共同为 AD 的精准医学奠定基础。
